219700.37

Country

United Arab Emirates

HPO Terms

Elevated sweat chloride; Exocrine pancreatic insufficiency; Recurrent upper respiratory tract infections
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Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.1647T>G2NA

Remarks

Patient 'D13' in the publication
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